$Unique_ID{BRK03794} $Pretitle{} $Title{Hageman Factor Deficiency} $Subject{Hageman Factor Deficiency Factor XII Deficiency HAF Deficiency Hageman Trait Factor IX Deficiency Factor XIII Deficiency} $Volume{} $Log{} Copyright (C) 1988, 1989 National Organization for Rare Disorders, Inc. 499: Hageman Factor Deficiency ** IMPORTANT ** It is possible the main title of the article (Hageman Deficiency) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Factor XII Deficiency HAF Deficiency Hageman Trait Information on the following diseases can be found in the Related Disorders section of this report: Factor IX Deficiency Factor XIII Deficiency General Discussion ** IMPORTANT ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Hageman Factor Deficiency is a genetic blood disorder. It is caused by a lack in activity of the Hageman factor in blood plasma, a single-chain glycoprotein which is also called Factor XII. This factor is needed for blood clotting. However, when it is deficient, other blood clotting factors tend to compensate for Factor XII. This disorder usually presents no symptoms and is only accidentally discovered through pre-operative blood tests that are required by hospitals. Symptoms Hageman Factor Deficiency may rarely cause blood clots at an early age. Blood clots that inhibit circulation through arteries can have serious consequences. If the blood clot interrupts blood supply to the heart (myocardial infarction) it may cause tissue death of the heart muscle. Another possible result of Hageman Factor Deficiency is inflammation of a vein associated with a blood clot (thrombophlebitis). An unusual tendency to bleed is not present in patients with this disorder. Red spots on the skin (petecchiae or ecchymoses) are absent as well. However, a test measuring clotting time shows that it takes an abnormally long time for the blood to clot in affected patients. Serum prothrombin and thromboplastin time (which are other tests related to blood clotting), are usually also abnormal. The blood level of Hageman Factor tends to vary greatly. Causes Hageman Factor Deficiency is a genetic disorder inherited through autosomal recessive genes. The defect is believed to be either on chromosome 6 or 7. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal.) The exact mechanism of inheritance is still being investigated. Affected Population Hageman Factor Deficiency affects persons of Oriental heritage more often than those of European descent. Males and females are affected in equal numbers. In about 10% of cases, the parents of patients with this disorder are closely related. Related Disorders Symptoms of the following disorders can be similar to those of Hageman Factor Deficiency. Comparisons may be useful for a differential diagnosis: Factor IX Deficiency is a severe genetic bleeding disorder that resembles classic Hemophilia A, although it occurs only one-fifth as often as Hemophilia. Factor IX is a component of the blood clotting substance, thromboplastin; it is deficient at birth in patients with this disorder. Factor IX Deficiency varies in severity and occurs most often in males. In rare instances, female carriers have been known to exhibit this deficiency in a mild form. Symptoms include prolonged bleeding episodes, and in very severe cases, joint pain and bone deformities. (For more information on this disorder, choose "Factor IX" as your search term in the Rare Disease Database.) Factor XIII Deficiency is an extremely rare genetic bleeding disorder. It is characterized by slow, oozing internal bleeding occurs several days after mild or severe injury. Poor wound healing and excessive bleeding from wounds are less common symptoms. About 100 cases of Factor XIII Deficiency have been described in the medical literature. Males and females are affected equally. With treatment, patients with this disorder can expect to live a normal life span. Without treatment, however, intracranial bleeding may eventually be life threatening. (For more information on this disorder, choose "Factor XIII" as your search term in the Rare Disease Database.) Therapies: Standard Hageman Factor Deficiency can be diagnosed by testing the blood of a person suspected to have the disorder with blood from a person known to have it. If the suspected blood does not correct the deficiency in the deficient blood, we know it is deficient as well. Treatment for this disorder is usually not necessary since the bleeding is only mild. Therapies: Investigational This disease entry is based upon medical information available through June 1988. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Hageman Factor Deficiency, please contact National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Hemophilia Foundation The Soho Building #406 110 Greene Street New York, NY 10012 (212) 219-8180 NIH/National Heart, Lung and Blood Institute (NHLBI) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-4236 For genetic information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References THE METABOLIC BASIS OF INHERITED DISEASE, 5th ed.: John B. Stanbury, et al., eds; McGraw Hill, 1983. Pp. 1548-1549. MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 1015-1016. THE CONTACT ACTIVATION SYSTEM: BIOCHEMISTRY AND INTERACTIONS OF THESE SURFACE-MEDIATED DEFENSE REACTIONS: R.W. Colman, et al.; Crc Crit Rev Oncol Hematol (1986: issue 5(1)). Pp. 57-85. IMMUNOBLOTTING STUDIES OF COAGULATION FACTOR XII, PLASMA PREKALLIKREIN, AND HIGH MOLECULAR WEIGHT KININOGEN: B. Lammle, et al.; Semin Thromb Hemost (January 1987: issue 13(1)). Pp. 106-114.